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Aliases for NEU1 Gene

Aliases for NEU1 Gene

  • Neuraminidase 1 (Lysosomal Sialidase) 2 3 5
  • Sialidase 1 (Lysosomal Sialidase) 2 3
  • N-Acetyl-Alpha-Neuraminidase 1 3 4
  • Acetylneuraminyl Hydrolase 3 4
  • Lysosomal Sialidase 3 4
  • G9 Sialidase 3 4
  • EC 3.2.1.18 4 63
  • NANH 3 4
  • Exo-Alpha-Sialidase 3
  • SIAL1 3
  • NEU 3

External Ids for NEU1 Gene

Previous HGNC Symbols for NEU1 Gene

  • NEU

Previous GeneCards Identifiers for NEU1 Gene

  • GC06M031898
  • GC06M031597
  • GC06M031931
  • GC06M031934
  • GC06M031825

Summaries for NEU1 Gene

Entrez Gene Summary for NEU1 Gene

  • The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]

GeneCards Summary for NEU1 Gene

NEU1 (Neuraminidase 1 (Lysosomal Sialidase)) is a Protein Coding gene. Diseases associated with NEU1 include sialidosis, type i and hydrops fetalis. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include exo-alpha-(2->3)-sialidase activity and exo-alpha-(2->8)-sialidase activity.

UniProtKB/Swiss-Prot for NEU1 Gene

  • Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage.

Gene Wiki entry for NEU1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEU1 Gene

Genomics for NEU1 Gene

Regulatory Elements for NEU1 Gene

Promoters for NEU1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NEU1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NEU1 Gene

Chromosome:
6
Start:
31,857,659 bp from pter
End:
31,862,932 bp from pter
Size:
5,274 bases
Orientation:
Minus strand

Genomic View for NEU1 Gene

Genes around NEU1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEU1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEU1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for NEU1 Gene

  • Protein details for NEU1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99519-NEUR1_HUMAN
    Recommended name:
    Sialidase-1
    Protein Accession:
    Q99519

    Protein attributes for NEU1 Gene

    Size:
    415 amino acids
    Molecular mass:
    45467 Da
    Quaternary structure:
    • Interacts with cathepsin A (protective protein), beta-galactosidase and N-acetylgalactosamine-6-sulfate sulfatase in a multienzyme complex.

neXtProt entry for NEU1 Gene

Proteomics data for NEU1 Gene at MOPED

Post-translational modifications for NEU1 Gene

  • N-glycosylated.
  • Phosphorylation of tyrosine within the internalization signal results in inhibition of sialidase internalization and blockage on the plasma membrane.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NEU1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for NEU1 (NEU-1/Sialidase-1)

Domains & Families for NEU1 Gene

Protein Domains for NEU1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q99519

UniProtKB/Swiss-Prot:

NEUR1_HUMAN :
  • A C-terminal internalization signal (YGTL) appears to allow the targeting of plasma membrane proteins to endosomes.
  • Belongs to the glycosyl hydrolase 33 family.
  • Contains 4 BNR repeats.
Domain:
  • A C-terminal internalization signal (YGTL) appears to allow the targeting of plasma membrane proteins to endosomes.
Family:
  • Belongs to the glycosyl hydrolase 33 family.
Similarity:
  • Contains 4 BNR repeats.
genes like me logo Genes that share domains with NEU1: view

No data available for Gene Families for NEU1 Gene

Function for NEU1 Gene

Molecular function for NEU1 Gene

GENATLAS Biochemistry:
neuraminidase,lysosomal,involved in stepwise degradation of complex type of oligosaccharide structure (glycoprotein catabolism),and cleavage of sialic acid from GM1 gangliosides
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 4.6.;
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates.
UniProtKB/Swiss-Prot Function:
Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage.

Enzyme Numbers (IUBMB) for NEU1 Gene

Gene Ontology (GO) - Molecular Function for NEU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with NEU1: view
genes like me logo Genes that share phenotypes with NEU1: view

Human Phenotype Ontology for NEU1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEU1 Gene

MGI Knock Outs for NEU1:

Animal Model Products

miRNA for NEU1 Gene

miRTarBase miRNAs that target NEU1

No data available for Transcription Factor Targets and HOMER Transcription for NEU1 Gene

Localization for NEU1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEU1 Gene

Lysosome membrane; Peripheral membrane protein; Lumenal side. Lysosome lumen. Cell membrane. Cytoplasmic vesicle. Note=Localized not only on the inner side of the lysosomal membrane and in the lysosomal lumen, but also on the plasma membrane and in intracellular vesicles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NEU1 Gene COMPARTMENTS Subcellular localization image for NEU1 gene
Compartment Confidence
golgi apparatus 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for NEU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IBA --
GO:0030054 cell junction IDA --
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with NEU1: view

Pathways & Interactions for NEU1 Gene

genes like me logo Genes that share pathways with NEU1: view

Interacting Proteins for NEU1 Gene

Gene Ontology (GO) - Biological Process for NEU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0044267 cellular protein metabolic process TAS --
GO:2000291 regulation of myoblast proliferation IEA --
genes like me logo Genes that share ontologies with NEU1: view

No data available for SIGNOR curated interactions for NEU1 Gene

Drugs & Compounds for NEU1 Gene

(37) Drugs for NEU1 Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oseltamivir Approved Pharma Target, inhibitor 93

(101) Additional Compounds for NEU1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Galactosylceramide (d18:1/16:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/18:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/18:1(9Z))
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/20:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/22:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
genes like me logo Genes that share compounds with NEU1: view

Transcripts for NEU1 Gene

Unigene Clusters for NEU1 Gene

Sialidase 1 (lysosomal sialidase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NEU1 Gene

No ASD Table

Relevant External Links for NEU1 Gene

GeneLoc Exon Structure for
NEU1
ECgene alternative splicing isoforms for
NEU1

Expression for NEU1 Gene

mRNA expression in normal human tissues for NEU1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NEU1 Gene

This gene is overexpressed in Amniocyte (19.2), Fetal gut (11.3), Urine (7.9), and Liver (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NEU1 Gene



SOURCE GeneReport for Unigene cluster for NEU1 Gene Hs.520037

mRNA Expression by UniProt/SwissProt for NEU1 Gene

Q99519-NEUR1_HUMAN
Tissue specificity: Highly expressed in pancreas, followed by skeletal muscle, kidney, placenta, heart, lung and liver. Weakly expressed in brain.
genes like me logo Genes that share expression patterns with NEU1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for NEU1 Gene

Orthologs for NEU1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NEU1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEU1 35
  • 99.6 (n)
  • 100 (a)
NEU1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NEU1 36
  • 86 (a)
OneToOne
NEU1 35
  • 84.58 (n)
  • 85.78 (a)
dog
(Canis familiaris)
Mammalia NEU1 35
  • 85.89 (n)
  • 88.32 (a)
NEU1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Neu1 16
Neu1 35
  • 83.79 (n)
  • 83.7 (a)
Neu1 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NEU1 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Neu1 35
  • 83.05 (n)
  • 83.7 (a)
lizard
(Anolis carolinensis)
Reptilia NEU1 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485853 35
  • 60.57 (n)
  • 62.05 (a)
zebrafish
(Danio rerio)
Actinopterygii neu1 35
  • 59.64 (n)
  • 60.8 (a)
neu1 36
  • 59 (a)
OneToOne
Species with no ortholog for NEU1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NEU1 Gene

ENSEMBL:
Gene Tree for NEU1 (if available)
TreeFam:
Gene Tree for NEU1 (if available)

Paralogs for NEU1 Gene

No data available for Paralogs for NEU1 Gene

Variants for NEU1 Gene

Sequence variations from dbSNP and Humsavar for NEU1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_012207 Sialidosis (SIALIDOSIS)
VAR_012208 Sialidosis (SIALIDOSIS)
VAR_012209 Sialidosis (SIALIDOSIS)
VAR_012210 Sialidosis (SIALIDOSIS)
rs28940583 Sialidosis (SIALIDOSIS) 31,860,588(-) TCATC(A/G)TGTGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NEU1 Gene

Variant ID Type Subtype PubMed ID
dgv6583n71 CNV Loss 21882294
dgv6592n71 CNV Loss 21882294
dgv6594n71 CNV Loss 21882294
nsv884472 CNV Loss 21882294
nsv508399 CNV Loss 20534489
nsv509126 CNV Insertion 20534489

Variation tolerance for NEU1 Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NEU1 Gene

HapMap Linkage Disequilibrium report
NEU1
Human Gene Mutation Database (HGMD)
NEU1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEU1 Gene

Disorders for NEU1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for NEU1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sialidosis, type i
  • sialidosis, type ii
hydrops fetalis
  • familial non-immune hydrops fetalis
non-immune hydrops fetalis
  • non-immune hf
juvenile sialidosis type 2
congenital sialidosis type 2
- elite association - COSMIC cancer census association via MalaCards
Search NEU1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NEUR1_HUMAN
  • Sialidosis (SIALIDOSIS) [MIM:256550]: Lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, mental retardation, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells. {ECO:0000269 PubMed:10944856, ECO:0000269 PubMed:11063730, ECO:0000269 PubMed:11279074, ECO:0000269 PubMed:11829139, ECO:0000269 PubMed:14695530, ECO:0000269 PubMed:8985184, ECO:0000269 PubMed:9054950}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for NEU1 Gene

mucolipidosis,type I,sialidosis,types I and II,hydrops fetalis

Relevant External Links for NEU1

Genetic Association Database (GAD)
NEU1
Human Genome Epidemiology (HuGE) Navigator
NEU1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NEU1
genes like me logo Genes that share disorders with NEU1: view

Publications for NEU1 Gene

  1. Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. (PMID: 9054950) Pshezhetsky A.V. … Potier M. (Nat. Genet. 1997) 2 3 4 67
  2. Complexity in influenza virus targeted drug design: interaction with human sialidases. (PMID: 20222714) Chavas L.M. … Wakatsuki S. (J. Med. Chem. 2010) 25 26
  3. Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization. (PMID: 19666471) Bonten E.J. … d'Azzo A. (J. Biol. Chem. 2009) 3 23
  4. Neuraminidase-1, a subunit of the cell surface elastin receptor, desialylates and functionally inactivates adjacent receptors interacting with the mitogenic growth factors PDGF-BB and IGF-2. (PMID: 18772331) Hinek A. … Liu K. (Am. J. Pathol. 2008) 3 23
  5. Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies. (PMID: 16538002) Tatano Y. … Itoh K. (J. Med. Invest. 2006) 3 23

Products for NEU1 Gene

Sources for NEU1 Gene

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